A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608444



Internal ID16395853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133930257..134441382hg38UCSC Ensembl
Innerchr7:133615010..134126134hg19UCSC Ensembl
Innerchr7:133265550..133776674hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38511126
hg19511125
hg18511125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094546
Samples
Known GenesEXOC4, LRGUK, SLC35B4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608444
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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